D44G (p.Asp44Gly) variant of CHD7 (Q9P2D1)
D44G (p.Asp44Gly) in CHD7 (Q9P2D1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
D44G (p.Asp44Gly) variant details
- p.Asp44Gly
- gnomAD 8-60741562-GACCAA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.773
- CADD 27.10
- Population evidence available
- Structural context available
- Literature evidence available